"3billion"[submitter] AND "NR5A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 941517	NM_004959.5(NR5A1):c.1138+5G>A	NR5A1	Single nucleotide variant (intron variant)	46,XY sex reversal 3 +2 more	GUncertain significance
Select item 1687563	NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp)	NR5A1 (R241W)	Single nucleotide variant (missense variant)	46,XY sex reversal 3 +2 more	GUncertain significance
Select item 1687253	NM_004959.5(NR5A1):c.284T>C (p.Phe95Ser)	NR5A1 (F95S)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GUncertain significance
Select item 1687572	NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys)	NR5A1 (R87C)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +2 more	GPathogenic
Select item 1705428	NM_004959.5(NR5A1):c.164G>A (p.Cys55Tyr)	NR5A1 (C55Y)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GUncertain significance
Select item 1687301	NM_004959.5(NR5A1):c.89G>A (p.Cys30Tyr)	NR5A1 (C30Y)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GUncertain significance
Select item 2572556	NM_004959.5(NR5A1):c.15C>A (p.Tyr5Ter)	NR5A1 (Y5*)	Single nucleotide variant (nonsense)	46,XY sex reversal 3	GLikely pathogenic
Select item 1687524	NM_004959.5(NR5A1):c.11C>A (p.Ser4Ter)	NR5A1 (S4*)	Single nucleotide variant (nonsense)	46,XY sex reversal 3	GPathogenic

ClinVar